Eliptocytosis: Definition, Types, Causes, Symptoms, Diagnosis and Treatment

The appearance of the red blood cells deformed by the condition can be compared to the shape of the eggs by visualizing blood collection under a microscope.

Eliptocitosis is a congenital condition or disease, that is, it is inherited through the parents and is characterized by a malformation of the red blood cells , which adopt an abnormal appearance such as an oval or an elliptical.

They tend to be elongated and hemoglobin is usually concentrated in the extremities of the cells, which tend to be blunt, therefore not as sharp as sickle cells.

Elliptocytosis occurs most often in people who have blood disorders, such as those who have megaloblastic anemia because of a marked deficiency of iron or elliptocytes.

Importance of red blood cells

Among the components that make up the blood are red blood cells with an approximate 45%, plasma with a presence of 54% and the remaining 1% is divided between white blood cells and platelets, so that red blood cells have an important value in blood formation.

Among the functions performed by these globules for the organism is the transfer of oxygen to the tissues of the body to exchange them for carbon dioxide, which will be definitively expelled from the organism by means of the lungs.

That is why the genetic malformation of red blood cells generated by Eliptocytosis can cause that these functions are not executed efficiently affecting notoriously the body, which may incur a deficient performance between physical characteristics distinctive to the common denominator.

Types of Eliptocytosis

The genetic malformation that occurs in red blood cells can be divided into three types:

  • Common eliptocytosis: it is characterized by being the most frequent in the index of people affected with this genetic condition.
  • Stomatocytic elliptocytosis: this type of condition is also known as ovalocytosis in Southeast Asia because the rate of affected people is more frequent in that continent, but specialist doctors can call it Melanosic elliptocytosis.
  • Spherocytic elliptocytosis: in this case, the abnormality in red blood cells is usually milder than in common eliptocytosis.

Causes

The Eliptocitosis to be a hereditary condition and autosomal dominant, is presented by the malformation in the following genes in the process of gestation of the fetus:

  • Cromosoma 1 – Gen EPB41.
  • Cromosoma 1 – Gen SPTA1.
  • Cromosoma 14 – Gen SPTB.
  • Chromosome 17 – SAO Gene.

Among the recorded cases of stomatocytic oculocytosis or ovalocytosis in Southeast Asia there is an average of 2 affected per 10,000 newborns in the Philippines, Malaysia and Indonesia.

While in Northern Europe, for every 2,500 newborns only 1 suffers from Eliptocytosis. According to some studies, this anomaly is more frequent in patients coming from Africa.

Symptoms of Eliptocytosis

People suffering from this condition have the following symptoms and predominant physical characteristics:

  • Respiratory problems.
  • Fatigue or fatigue without physical activities.
  • Tone of the yellowish skin as well as the white part of the eye.
  • Proportional enlargement of the spleen, better known as splenomegaly.

Patients with Eliptocytosis tend to have a hemolytic anemia that is usually mild but it all depends on the individual who suffers.

This type of anemia occurs when accelerated destruction of red blood cells occurs and tends to stabilize after 6 months of life of the newborn.

Diagnosis

Specialist doctors to determine if a patient or newborn has this condition, can perform:

  • Blood count: This test shows if the red blood cells are destroyed abnormally causing an anemic state.
  • Blood smear: it allows to evaluate if the red blood cells are elliptical.
  • Bilirubin test: patients who have high bilirubin without an apparent condition may be suffering from Eliptocytosis.

Treatment

This genetic and hereditary condition has no established treatment, in the event that the condition completely affects the functioning of the organism, the spleen can be removed to reduce the damage suffered by the red blood cells and thus prolong a healthy life in the affected person, due that the constant decrease in red blood cells causes an anemic condition that is increasingly higher.

It is also possible to control the anemic peaks that may occur in patients who have this condition throughout their lives to reduce future risks.